Lopes-Fatturi Aluhê, Fonseca-Souza Gabriela, Wambier Leticia Maira, Brancher João Armando, Küchler Erika Calvano, Feltrin-Souza Juliana
Herrero University, Curitiba, Brazil.
Department of Stomatology, Federal University of Paraná, Curitiba, Brazil.
Int J Paediatr Dent. 2025 Mar;35(2):298-310. doi: 10.1111/ipd.13233. Epub 2024 Jul 1.
Polymorphisms in genes related to enamel formation and mineralization may increase the risk of developmental defects of enamel (DDE).
To evaluate the existing literature on genetic polymorphisms associated with DDE.
This systematic review was registered in the PROSPERO (CRD42018115270). The literature search was performed in PubMed, Scopus, Web of Science, LILACS, BBO, Cochrane Library, and in the gray literature. Observational studies assessing the association between DDE and genetic polymorphism were included. The Newcastle-Ottawa Scale was used to assess the risk of bias.
One thousand one hundred and forty-six articles were identified, and 28 met the inclusion criteria. Five studies presented a low risk of bias. Ninety-two genes related to enamel development, craniofacial patterning morphogenesis, immune response, and hormone transcription/reception were included. Molar-incisor hypomineralization (MIH) and/or hypomineralization of primary second molars (HPSM) were associated with 80 polymorphisms of genes responsible for enamel development, immune response, morphogenesis, and xenobiotic detoxication. A significant association was found between the different clinical manifestations of dental fluorosis (DF) with nine polymorphisms of genes responsible for enamel development, craniofacial development, hormonal transcription/reception, and oxidative stress. Hypoplasia was associated with polymorphisms located in intronic regions.
MIH, HPSM, DF, and hypoplasia reported as having a complex etiology are significantly associated with genetic polymorphisms of several genes.
与釉质形成和矿化相关的基因多态性可能会增加釉质发育缺陷（DDE）的风险。
评估与DDE相关的基因多态性的现有文献。
本系统评价已在PROSPERO（CRD42018115270）注册。在PubMed、Scopus、科学网、拉丁美洲和加勒比卫生科学数据库、BBO、Cochrane图书馆以及灰色文献中进行文献检索。纳入评估DDE与基因多态性之间关联的观察性研究。使用纽卡斯尔-渥太华量表评估偏倚风险。
共识别出1146篇文章，28篇符合纳入标准。五项研究的偏倚风险较低。纳入了92个与釉质发育、颅面模式形态发生、免疫反应和激素转录/受体相关的基因。磨牙-切牙矿化不全（MIH）和/或乳磨牙矿化不全（HPSM）与负责釉质发育、免疫反应、形态发生和外源性解毒的基因的80个多态性相关。发现氟斑牙（DF）的不同临床表现与负责釉质发育、颅面发育、激素转录/受体和氧化应激的基因的九个多态性之间存在显著关联。发育不全与内含子区域的多态性相关。
病因复杂的MIH、HPSM、DF和发育不全与多个基因的基因多态性显著相关。
